chr7-149071258-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152411.4(ZNF786):c.1514G>A(p.Gly505Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000145 in 1,612,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152411.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF786 | NM_152411.4 | c.1514G>A | p.Gly505Glu | missense_variant | 4/4 | ENST00000491431.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF786 | ENST00000491431.2 | c.1514G>A | p.Gly505Glu | missense_variant | 4/4 | 1 | NM_152411.4 | P1 | |
ZNF786 | ENST00000316286.13 | c.1256G>A | p.Gly419Glu | missense_variant | 3/3 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000362 AC: 9AN: 248462Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135026
GnomAD4 exome AF: 0.000153 AC: 224AN: 1460542Hom.: 0 Cov.: 31 AF XY: 0.000138 AC XY: 100AN XY: 726474
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2023 | The c.1514G>A (p.G505E) alteration is located in exon 4 (coding exon 4) of the ZNF786 gene. This alteration results from a G to A substitution at nucleotide position 1514, causing the glycine (G) at amino acid position 505 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at